Literature DB >> 17549529

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.

Isabella Fogh, Fruhling Rijsdijk, Peter M Andersen, Pak C Sham, Joanne Knight, Benjamin Neale, Diane McKenna-Yasek, Vincenzo Silani, Robert H Brown, John F Powell, Ammar Al-Chalabi.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17549529     DOI： 10.1007/s10048-007-0092-2

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


× No keyword cloud information.
  6 in total

1.  A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation.

Authors:  D R Rosen
Journal:  Clin Genet       Date:  2004-09       Impact factor: 4.438

2.  Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.

Authors:  P M Andersen; L Forsgren; M Binzer; P Nilsson; V Ala-Hurula; M L Keränen; L Bergmark; A Saarinen; T Haltia; I Tarvainen; E Kinnunen; B Udd; S L Marklund
Journal:  Brain       Date:  1996-08       Impact factor: 13.501

3.  Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans.

Authors:  R Duggirala; J Blangero; L Almasy; T D Dyer; K L Williams; R J Leach; P O'Connell; M P Stern
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

4.  Age at onset in two common neurodegenerative diseases is genetically controlled.

Authors:  Yi-Ju Li; William K Scott; Dale J Hedges; Fengyu Zhang; P Craig Gaskell; Martha A Nance; Ray L Watts; Jean P Hubble; William C Koller; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; Joseph Jankovic; Fred A Allen; Christopher G Goetz; Frank Mastaglia; Jeffrey M Stajich; Rachel A Gibson; Lefkos T Middleton; Ann M Saunders; Burton L Scott; Gary W Small; Kristin K Nicodemus; Allison D Reed; Donald E Schmechel; Kathleen A Welsh-Bohmer; P Michael Conneally; Allen D Roses; John R Gilbert; Jeffery M Vance; Jonathan L Haines; Margaret A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2002-03-01       Impact factor: 11.025

5.  Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Authors:  Nancy S Wexler; Judith Lorimer; Julie Porter; Fidela Gomez; Carol Moskowitz; Edith Shackell; Karen Marder; Graciela Penchaszadeh; Simone A Roberts; Javier Gayán; Denise Brocklebank; Stacey S Cherny; Lon R Cardon; Jacqueline Gray; Stephen R Dlouhy; Sandra Wiktorski; Marion E Hodes; P Michael Conneally; Jack B Penney; James Gusella; Jang-Ho Cha; Michael Irizarry; Diana Rosas; Steven Hersch; Zane Hollingsworth; Marcy MacDonald; Anne B Young; J Michael Andresen; David E Housman; Margot Mieja De Young; Ernesto Bonilla; Theresa Stillings; Americo Negrette; S Robert Snodgrass; Maria Dolores Martinez-Jaurrieta; Maria A Ramos-Arroyo; Jacqueline Bickham; Juan Sanchez Ramos; Frederick Marshall; Ira Shoulson; Gustavo J Rey; Andrew Feigin; Norman Arnheim; Amarilis Acevedo-Cruz; Leticia Acosta; Jose Alvir; Kenneth Fischbeck; Leslie M Thompson; Angela Young; Leon Dure; Christopher J O'Brien; Jane Paulsen; Adam Brickman; Denise Krch; Shelley Peery; Penelope Hogarth; Donald S Higgins; Bernhard Landwehrmeyer
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-01       Impact factor: 11.205

6.  A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

Authors:  D R Rosen; A C Bowling; D Patterson; T B Usdin; P Sapp; E Mezey; D McKenna-Yasek; J O'Regan; Z Rahmani; R J Ferrante
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150
  6 in total
  10 in total

1.  An estimate of amyotrophic lateral sclerosis heritability using twin data.

Authors:  A Al-Chalabi; F Fang; M F Hanby; P N Leigh; C E Shaw; W Ye; F Rijsdijk
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-09-22       Impact factor: 13.654

2.  EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.

Authors:  Annelies Van Hoecke; Lies Schoonaert; Robin Lemmens; Mieke Timmers; Kim A Staats; Angela S Laird; Elke Peeters; Thomas Philips; An Goris; Bénédicte Dubois; Peter M Andersen; Ammar Al-Chalabi; Vincent Thijs; Ann M Turnley; Paul W van Vught; Jan H Veldink; Orla Hardiman; Ludo Van Den Bosch; Paloma Gonzalez-Perez; Philip Van Damme; Robert H Brown; Leonard H van den Berg; Wim Robberecht
Journal:  Nat Med       Date:  2012-09       Impact factor: 53.440

Review 3.  Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis.

Authors:  Jik Nijssen; Laura H Comley; Eva Hedlund
Journal:  Acta Neuropathol       Date:  2017-04-13       Impact factor: 17.088

4.  The tyrosine kinase receptor Tyro3 enhances lifespan and neuropeptide Y (Npy) neuron survival in the mouse anorexia (anx) mutation.

Authors:  Dennis Y Kim; Joanna Yu; Ryan K Mui; Rieko Niibori; Hamza Bin Taufique; Rukhsana Aslam; John W Semple; Sabine P Cordes
Journal:  Dis Model Mech       Date:  2017-01-12       Impact factor: 5.758

5.  Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Authors:  Puja R Mehta; Ashley R Jones; Sarah Opie-Martin; Aleksey Shatunov; Alfredo Iacoangeli; Ahmad Al Khleifat; Bradley N Smith; Simon Topp; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Sarah Morgan; Alan Pittman; Ammar Al-Chalabi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-09-30       Impact factor: 13.654

6.  Reducing EphA4 before disease onset does not affect survival in a mouse model of Amyotrophic Lateral Sclerosis.

Authors:  Laura Rué; Mieke Timmers; Annette Lenaerts; Silke Smolders; Lindsay Poppe; Antina de Boer; Ludo Van Den Bosch; Philip Van Damme; Wim Robberecht; Robin Lemmens
Journal:  Sci Rep       Date:  2019-10-01       Impact factor: 4.379

7.  Reduction of ephrin-A5 aggravates disease progression in amyotrophic lateral sclerosis.

Authors:  Laura Rué; Patrick Oeckl; Mieke Timmers; Annette Lenaerts; Jasmijn van der Vos; Silke Smolders; Lindsay Poppe; Antina de Boer; Ludo Van Den Bosch; Philip Van Damme; Jochen H Weishaupt; Albert C Ludolph; Markus Otto; Wim Robberecht; Robin Lemmens
Journal:  Acta Neuropathol Commun       Date:  2019-07-12       Impact factor: 7.801

8.  Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Authors:  Qi Wang; Joshua L Johnson; Nathalie Y R Agar; Jeffrey N Agar
Journal:  PLoS Biol       Date:  2008-07-29       Impact factor: 8.029

9.  Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?

Authors:  Roger Pamphlett; Pak Leng Cheong; Ronald J Trent; Bing Yu
Journal:  PLoS One       Date:  2013-07-19       Impact factor: 3.240

10.  Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Authors:  Kreshnik B Ahmeti; Senda Ajroud-Driss; Ammar Al-Chalabi; Peter M Andersen; Jennifer Armstrong; Anne Birve; Hylke M Blauw; Robert H Brown; Lucie Bruijn; Wenjie Chen; Adriano Chio; Mary C Comeau; Simon Cronin; Frank P Diekstra; Athina Soraya Gkazi; Jonathan D Glass; Josh D Grab; Ewout J Groen; Jonathan L Haines; Orla Hardiman; Scott Heller; Jie Huang; Wu-Yen Hung; James M Jaworski; Ashley Jones; Humaira Khan; John E Landers; Carl D Langefeld; P Nigel Leigh; Miranda C Marion; Russell L McLaughlin; Vincent Meininger; Judith Melki; Jack W Miller; Gabriele Mora; Margaret A Pericak-Vance; Evadnie Rampersaud; Wim Robberecht; Laurie P Russell; Francois Salachas; Christiaan G Saris; Aleksey Shatunov; Christopher E Shaw; Nailah Siddique; Teepu Siddique; Bradley N Smith; Robert Sufit; Simon Topp; Bryan J Traynor; Caroline Vance; Philip van Damme; Leonard H van den Berg; Michael A van Es; Paul W van Vught; Jan H Veldink; Yi Yang; J G Zheng
Journal:  Neurobiol Aging       Date:  2012-09-05       Impact factor: 4.673
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.